Variant: rs397514464 

    present in Gene: PDE4D
    present in Chromosome: 5
    Position on Chromosome: 59193511
    Alleles of this Variant: G/T

rs397514464 in PDE4D gene and ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE PMID 22464250 2012 Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis.

PMID 23043190 2012 PRKAR1A and PDE4D mutations cause acrodysostosis but two distinct syndromes with or without GPCR-signaling hormone resistance.

PMID 23033274 2013 Identification of novel mutations confirms PDE4D as a major gene causing acrodysostosis.

PMID 22464252 2012 Exome sequencing identifies PDE4D mutations in acrodysostosis.